Article
A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.
Asian Pacific journal of allergy and immunology - 1 Sept 2014
Liu Po-Ning, Li Hong, Li Qiang, Yin Zhong-Wei, Zhou Chen-Yan, Jiang Ming-Yan, Guo Xia
Abstract excerpt
X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extremely decreased IgG...
Topics
- Asian People
- CD40 Ligand
- Child
- Exons
- Gene Expression Regulation
- Humans
- Hyper-IgM Immunodeficiency Syndrome, Type 1
- Immunoglobulins
- Lymphocytes
- Male
- Mutation